血红蛋白盖尔德罗普圣安娜[β94（FG1）天冬氨酸→酪氨酸]：在一名糖尿病患者中观察到的一种新的血红蛋白变异体。

Hb Geldrop St. Anna [beta94(FG1)Asp --> Tyr]: a new hemoglobin variant observed in a diabetic patient.

作者信息

Harteveld Cornelis L, Thelen Marc H M, Rutten Johannes J A, Leuverman Jolanda, Akkermans Nicole, van Delft Peter, Arkesteijn Sandra, Giordano Piero C

机构信息

The Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

出版信息

Hemoglobin. 2005;29(2):107-12.

PMID:15921162

Abstract

An abnormal hemoglobin (Hb) fraction was observed during a high performance liquid chromatographic (HPLC) Hb A1c control for diabetes mellitus in a 56-year-old north European woman. Family analyses revealed the abnormal fraction in three of her five siblings and in her son. Elevated Hb and packed cell volume (PCV) values and red blood cell (RBC) counts were present in all carriers. No histories of anemia, hemolytic or circulatory episodes were reported. The abnormal Hb fraction estimated at 40%, migrated just below Hb F on alkaline electrophoresis and overlapped the Hb A2 peak on cation exchange HPLC. Direct sequencing of the beta-globin genes revealed a new GAC --> TAC transversion in heterozygous form at codon 94 of the beta-globin gene. Based on the hematological/biochemical data and the decreased P50 value, we conclude that the new variant is a stable Hb associated with a slightly elevated oxygen affinity.

摘要

在对一名56岁北欧女性进行糖尿病糖化血红蛋白（Hb A1c）高效液相色谱（HPLC）检测时，发现了一种异常血红蛋白（Hb）组分。家系分析显示，她的五个兄弟姐妹中有三个以及她的儿子都存在这种异常组分。所有携带者的血红蛋白（Hb）、红细胞压积（PCV）值和红细胞（RBC）计数均升高。未报告有贫血、溶血或循环系统疾病史。经碱性电泳估计，异常Hb组分占40%，迁移位置略低于Hb F，在阳离子交换HPLC上与Hb A2峰重叠。β-珠蛋白基因的直接测序显示，β-珠蛋白基因第94密码子处存在一种新的杂合形式的GAC→TAC颠换。根据血液学/生化数据以及降低的P50值，我们得出结论，这种新变体是一种与氧亲和力略有升高相关的稳定Hb。